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Page 1
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS. Monteiro RAC, et al. Among authors: mazzeu jf. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. Mol Syndromol. 2017. PMID: 28878606 Free PMC article.
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A, Zechi-Ceide RM, Candido-Souza RM, Monteiro RAC, Tonello C, de Freitas ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Mazzeu JF, Overes M, Ali-Amin R, van Slegtenhorst M, Hoefsloot LH, Jehee FS. Richieri-Costa A, et al. Among authors: mazzeu jf. Am J Med Genet A. 2019 Nov;179(11):2170-2177. doi: 10.1002/ajmg.a.61305. Epub 2019 Jul 28. Am J Med Genet A. 2019. PMID: 31353810
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Krepischi-Santos AC, Vianna-Morgante AM, Jehee FS, Passos-Bueno MR, Knijnenburg J, Szuhai K, Sloos W, Mazzeu JF, Kok F, Cheroki C, Otto PA, Mingroni-Netto RC, Varela M, Koiffmann C, Kim CA, Bertola DR, Pearson PL, Rosenberg C. Krepischi-Santos AC, et al. Among authors: mazzeu jf. Cytogenet Genome Res. 2006;115(3-4):254-61. doi: 10.1159/000095922. Cytogenet Genome Res. 2006. PMID: 17124408
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation.
Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, Bertola DR, Alonso LG, D'Angelo CS, Mazzeu JF, Froyen G, Lugtenberg D, Vianna-Morgante AM, Rosenberg C, Passos-Bueno MR. Jehee FS, et al. Among authors: mazzeu jf. J Med Genet. 2008 Jul;45(7):447-50. doi: 10.1136/jmg.2007.057042. Epub 2008 May 2. J Med Genet. 2008. PMID: 18456720
Partial 1q Duplications and Associated Phenotype.
Morris ML, Baroneza JE, Teixeira P, Medina CT, Cordoba MS, Versiani BR, Roese LL, Freitas EL, Fonseca AC, Dos Santos MC, Pic-Taylor A, Rosenberg C, Oliveira SF, Ferrari I, Mazzeu JF. Morris ML, et al. Among authors: mazzeu jf. Mol Syndromol. 2016 Feb;6(6):297-303. doi: 10.1159/000443599. Epub 2016 Feb 4. Mol Syndromol. 2016. PMID: 27022331 Free PMC article.
An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.
Praxedes LA, Pereira FM, Mazzeu JF, Costa SS, Bertola DR, Kim CA, Vianna-Morgante AM, Otto PA. Praxedes LA, et al. Among authors: mazzeu jf. Mol Syndromol. 2010 Sep;1(3):133-135. doi: 10.1159/000319976. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031083 Free PMC article.
Genetic and genomics in congenital heart disease: a clinical review.
Saliba A, Figueiredo ACV, Baroneza JE, Afiune JY, Pic-Taylor A, Oliveira SF, Mazzeu JF. Saliba A, et al. Among authors: mazzeu jf. J Pediatr (Rio J). 2020 May-Jun;96(3):279-288. doi: 10.1016/j.jped.2019.07.004. Epub 2019 Aug 14. J Pediatr (Rio J). 2020. PMID: 31421069 Free PMC article. Review.
Characterization of Associated Nonclassical Phenotypes in Patients with Deletion in the WAGR Region Identified by Chromosomal Microarray: New Insights and Literature Review.
de Souza VS, da Cunha GCR, Versiani BR, de Oliveira CP, Rosa MTAS, de Oliveira SF, Moretti PN, Mazzeu JF, Pic-Taylor A. de Souza VS, et al. Among authors: mazzeu jf. Mol Syndromol. 2022 Jul;13(4):290-304. doi: 10.1159/000518872. Epub 2022 Feb 11. Mol Syndromol. 2022. PMID: 36158055 Free PMC article.
Complex phenotype associated with 17q21.31 microdeletion.
Dornelles-Wawruk H, Pic-Taylor A, Rosenberg C, Krepischi AC, Safatle HP, Ferrari I, Mazzeu JF. Dornelles-Wawruk H, et al. Among authors: mazzeu jf. Mol Syndromol. 2013 Sep;4(6):297-301. doi: 10.1159/000354120. Epub 2013 Aug 21. Mol Syndromol. 2013. PMID: 24167466 Free PMC article.
61 results